ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.223A>G (p.Met75Val)

gnomAD frequency: 0.00047  dbSNP: rs144767577
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704725 SCV000833685 benign Epilepsy, familial adult myoclonic, 5 2025-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420259 SCV004124365 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CNTN2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003420259 SCV005281742 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003953246 SCV004772450 benign CNTN2-related disorder 2019-07-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.